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Mainstreaming of genomic medicine in gastroenterology, present and future: a nationwide survey of UK gastroenterology trainees

Open access
Al Bakir, Ibrahim, Sebepos-Rogers, Gregory Malcolm, Burton, Hilary, Monahan, Kevin J·2019·BMJ Open
DOI 10.1136/bmjopen-2019-030505PMC PMC6830597
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Abstract

Objective: Genomics and personalised medicine are increasingly relevant for patients with gastroenterological conditions. We aim to capture the current state of genomics training in gastroenterology to review current understanding, clinical experience and long-term educational needs of UK trainees. Design and setting: A web-based nationwide survey of all UK gastroenterology specialty trainees was conducted in 2017. Results: 100 trainees (14% of UK gastroenterology trainees) completed this survey. Only 9% and 16% of respondents believe that their local training programme adequately prepares them for the future clinical practice using genomic medicine and personalised medicine, respectively. Barriers identified include the need for greater trainee education (95%), inadequate clinical guidance to base interventions on the results of genomic testing (53%), concerns over misinterpretation by patients (43%) and overuse/misuse of testing by clinicians (34%). Survey respondents felt prepared to perform HFE genotyping (98%), assess TPMT status (97%) and interpret HLA subtyping for suspected coeliac disease (85%). However, only a minority felt prepared to perform the following investigations: polyposis screening (34%), hereditary pancreatitis screening (30%), testing for Lynch yndrome (33%) and KRAS testing for colorectal cancer (20%). Most respondents would support holding dedicated training days on genomic medicine (83%), formal training provisions for the mainstreaming of genomic testing (64%), an update to the UK gastroenterology specialty training curriculum and examinations (57%) and better-defined referral pathways for local genomic services (91%). Conclusion: Most gastroenterology trainees in this survey feel ill equipped to practise genomic and personalised medicine as consultants. We propose specific revisions to the UK gastroenterology specialty curriculum that addresses trainees needs.

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Figure 1 A breakdown of survey responders by deanery (A—top), year of training (B—bottom left) and additional degree (C—bottom right). ST, senior trainees; CCT, Completion of Consultant Training.
Figure 1 A breakdown of survey responders by deanery (A—top), year of training (B—bottom left) and additional degree (C—bottom right). ST, senior trainees; CCT, Completion of Consultant Training.CC BY-NC · PubMed Central
Figure 2 A breakdown of trainee survey responses according to their self-perceived preparedness for future practice using genomic medicine and precision medicine.
Figure 2 A breakdown of trainee survey responses according to their self-perceived preparedness for future practice using genomic medicine and precision medicine.CC BY-NC · PubMed Central
Figure 3 Self-reported competency in genetic testing relevant to gastrointestinal conditions. (A) Breakdown of survey responses relating to currently available genomic screening tests in gastroenterology. (B) Breakdown of survey responses for a case scenario relating to patients with a family history of colorectal cancer. TPMT, Thiopurine S-methyltransferase; HLA, Human leukocyte antigen.
Figure 3 Self-reported competency in genetic testing relevant to gastrointestinal conditions. (A) Breakdown of survey responses relating to currently available genomic screening tests in gastroenterology. (B) Breakdown of survey responses for a case scenario relating to patients with a family history of colorectal cancer. TPMT, Thiopurine S-methyltransferase; HLA, Human leukocyte antigen.CC BY-NC · PubMed Central
Figure 4 Trainee responses regarding challenges relating to the mainstreaming of genomic medicine, with supported future interventions. (A) Trainee support for selected interventions that promote genomic mainstreaming. (B) A breakdown of trainee responses regarding selected challenges posed by genomic mainstreaming. JRCPTB, Joint Royal College of Physicians training Board.
Figure 4 Trainee responses regarding challenges relating to the mainstreaming of genomic medicine, with supported future interventions. (A) Trainee support for selected interventions that promote genomic mainstreaming. (B) A breakdown of trainee responses regarding selected challenges posed by genomic mainstreaming. JRCPTB, Joint Royal College of Physicians training Board.CC BY-NC · PubMed Central

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Research works printed but not linked: 6

  1. 10.1016/j.tig.2014.07.001 · DOI
  2. Stephens, 2017, Individualized medicine in gastroenterology and hepatology, Mayo Clin Proc, 92, 810, 10.1016/j.mayocp.2017.03.002 · DOI
  3. Turnbull, 2018, The 100 000 Genomes Project: bringing whole genome sequencing to the NHS, BMJ, 361, 10.1136/bmj.k1687 · DOI
  4. Schwarze, 2018, Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature, Genet Med, 20, 1122, 10.1038/gim.2017.247 · DOI
  5. 10.1136/flgastro-2013-100362 · DOI
  6. 10.1093/hmg/ddy170 · DOI

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Metadata

Authors
Al Bakir, I., Sebepos-Rogers, G. M., Burton, H., & Monahan, K. J.
Affiliations
  • University of Cambridge (GB)
  • Cancer Clinic (US)
Corresponding author
Monahan, Kevin J
ORCID
Venue
BMJ Open
Publisher
BMJ
Published
2019-10
Volume
9
Issue
10
Pages
e030505
ISSN
2044-6055 (ISSN-L)
DOI
10.1136/bmjopen-2019-030505
PMC
PMC6830597
OpenAlex
W2981897222
Cited by
24
References
0
Citations by year
2025: 7 · 2024: 2 · 2023: 7 · 2022: 2 · 2021: 4 · 2020: 1
FWCI
0.58
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • BMJ Open (publishedVersion, cc-by-nc)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • HighWire Press Open Archive (submittedVersion)
  • Spiral (Imperial College London) (submittedVersion, cc-by-nc)
Funders
Barts Charity (MGU0423)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genetics, Bioinformatics, and Biomedical Research
  • Social Sciences › Education › Innovations in Medical Education
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Health and Medical Research Impacts
Keywords
genomic medicine, personalized medicine, gastroenterology training, specialist trainees, medical education, training curriculum, thiopurine S-methyltransferase, celiac disease, Lynch syndrome, KRAS testing, colorectal cancer, hereditary pancreatitis
MeSH terms
Attitude of Health Personnel, Curriculum, Education, Medical, Graduate, Gastroenterology, United Kingdom, Humans, Surveys and Questionnaires, Genomics, Precision Medicine

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CoChat. (2026). Citation check: Mainstreaming of genomic medicine in gastroenterology, present and future: a nationwide survey of UK gastroenterology trainees. https://app.cochat.ai/papers/10.1136/bmjopen-2019-030505
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Al Bakir, I., Sebepos-Rogers, G. M., Burton, H., & Monahan, K. J. (2019). Mainstreaming of genomic medicine in gastroenterology, present and future: a nationwide survey of UK gastroenterology trainees. BMJ Open. https://doi.org/10.1136/bmjopen-2019-030505